Intraindividual somatic variations in MTHFR gene polymorphisms in relation to colon cancer

Pharmacogenomics

Volumn 15, Issue 3, 2014, Pages 349-359

  Rai, Padmalatha S ^a   Pai, Ganesh C ^b   Alvares, Jose F ^b   Bellampalli, Ravishankara ^a   Gopinath, Puthiya M ^a   Satyamoorthy, Kapaettu ^a  

^a MANIPAL SCHOOL OF LIFE SCIENCES   (India)

^b KASTURBA MEDICAL COLLEGE   (India)

Author keywords

colon cancer; genotyping; Indian population; MTHFR gene polymorphism; somatic variations

Indexed keywords

ADULT; AGED; ALLELES; COLONIC NEOPLASMS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84894422455     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.14.4     Document Type: Article

References (33)

1. Kang SS, Wong PW, Susmano A, Sora J, Norusis M, Ruggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. Am. J. Hum. Genet. 48(3), 536-545 (1991).
2. Chen J, Gammon D, Chan W et al. One-carbon metabolism, MTHFR polymorphisms, and risk of breast cancer. Cancer Res. 65(4), 1606-1614 (2005).
3. Rozen R. Genetic predisposition to hyperhomocysteinemia: deficiency of methylenetetrahydrofolate reductase (MTHFR). Thromb. Haemost. 78(1), 523-526 (1997).
4. Friedman G, Goldschmidt N, Friedlander Y et al. A common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations. J. Nutr. 129(9), 1656-1661 (1999).
5. Fodinger M, Buchmayer H, Heinz G et al. Effect of MTHFR 1298A->C and MTHFR 677C->T genotypes on total homocysteine, folate, and vitamin B(12) plasma concentrations in kdiney graft recipients. J. Am. Soc. Nephrol. 11(10), 1918-1925 (2000).
6. Andreassi MG, Botto N, Cocci F et al. Methylenetetrahydrofolate reductase gene C677T polymorphism, homocysteine, vitamin B12, and DNA damage in coronary artery disease. Hum. Genet. 112(2), 171-177 (2003).
7. Kim D, Ahn Y, Lee B, Tsuji E, Kiyohara C, Kono S. Methylenetetrahydrofolate reductase polymorphism, alcohol intake, and risks of colon and rectal cancers in Korea. Cancer Lett. 216(2), 199-205 (2004).
8. Miao X, Xing D, Tan W, Qi J, Lu W, Lin D. Susceptibility to gastric cardia adenocarcinoma and genetic polymorphisms in methylenetetrahydrofolate reductase in an at-risk Chinese population. Cancer Epidemiol. Biomarkers Prev. 11(11), 1454-1458 (2002).
9. Keku T, Millikan R, Worley K et al. 5,10-methylenetetrahydrofolate reductase codon 677 and 1298 polymorphisms and colon cancer in African Americans and whites. Cancer Epidemiol. Biomarkers Prev. 11(12), 1611-1621 (2002).
10. Gazali A, Padmanabhan R, Melnyk S et al. Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with down syndrome and neural tube defect. Am. J. Med. Genet. 103(2), 128-132 (2001).
11. Hobbs CA, Sherman SL, Yi P et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am. J. Hum. Genet. 67(3), 623-630 (2000).
12. Pitkin RM. Folate and neural tube defects. Am. J. Clin. Nutr. 85(1), 285S-288S (2007).
13. Slattery ML, Potter JD, Samowitz W, Schaffer D, Leppert M. Methylenetetrahydrofolate reductase, diet, and risk of colon cancer. Cancer Epidemiol. Biomarkers Prev. 8(6), 513-518 (1999).
14. Levine AJ, Siegmund KD, Ervin CM et al. The methylenetetrahydrofolate reductase 677C->T polymorphism and distal colorectal adenoma risk. Cancer Epidemiol. Biomarkers Prev. 9(7), 657-663 (2000).
15. Fearon ER, Vogelstein B. Tumor suppressor gene defects in human cancer. In: Holland-Frei Cancer Medicine (5th Edition). Bast RC, Kufe DW, Pollock RE et al. (Eds). BC Decker, Hamilton, ON, USA (2000).
16. Tomsic J, Guda K, Liyanarachchi S et al. Allele-specific expression of TGFBR1 in colon cancer patients. Carcinogenesis 31(10), 1800-1804 (2010).
17. Visone R, Croce CM. MiRNAs and cancer. Am. J. Pathol. 174(4), 1131-1138 (2009).
18. Das PM, Singal R. DNA methylation and cancer. J. Clin. Oncol. 22(22), 4632-4642 (2004).
19. Sambrook J, Fritsch EF, Maniatis T. Isolation of high-molecular-weight DNA from mammalian cells. In: Molecular Cloning: a Laboratory Manual. Nolan C (Ed.). Cold Spring Harbor Press, NY, USA, 9.16-9.19 (1989).
20. De Alvarenga MP, Pavarino-Bertelli EC, Goloni-Bertollo EM. Comparing techniques for the identification of the MTHFR A1298C polymorphism. J. Biomol. Tech. 9(2), 103-105 (2008).
21. Toffoli G, Gafa R, Russo A et al. Methylenetetrahydrofolate reductase 677 C->T polymorphism and risk of proximal colon cancer in north Italy. Clin. Cancer Res. 9(2), 743-748 (2003).
22. Wang J, Gajalakshmi V, Jiang J et al. Associations between 5,10-methylenetetrahydrofolate reductase codon 677 and 1298 genetic polymorphisms and environmental factors with reference to susceptibility to colorectal cancer: a case-control study in an Indian population. Int. J. Cancer 118(4), 991-997 (2006).
23. Park KS, Mok JW, Kim JC. The 677C>T mutation in 5,10- methylenetetrahydrofolate reductase and colorectal cancer risk. Genet. Test. 3(2), 233-236 (1999).
24. Yin G, Kono S, Toyomura K et al. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and colorectal cancer: the Fukuoka colorectal cancer study. Cancer Sci. 95(11), 908-913 (2004).
25. Chandy S, Sadananda Adiga MN, Ramachandra N et al. Association of methylenetetrahydrofolate reductase gene polymorphisms and colorectal cancer in India. Indian J. Med. Res. 131, 659-664 (2010).
26. van der Put NM, Gabreels F, Stevens EM et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am. J. Hum. Genet. 62(5), 1044-1051 (1998).
27. Martinez ME, Thompson P, Jacobs ET et al. Dietary factors and biomarkers involved in the methylenetetrahydrofolate reductase genotype-colorectal adenoma pathway. Gastroenterology 131(6), 1706-1716 (2006).
28. Qiu P, Luquan Wang L, Kostich M, Ding W, Simon JS, Greene JR. Genome wide in silico SNP-tumor association analysis. BMC Cancer 4, 4 (2004).
29. Houlston RS, Tomlinson IP. Polymorphisms and colorectal tumor risk. Gastroenterology 121(2), 282-301 (2001).
30. Jiang Q, Chen K, Ma X et al. Diets, polymorphisms of methylenetetrahydrofolate reductase, and the susceptibility of colon cancer and rectal cancer. Cancer Detect. Prev. 29(2), 146-154 (2005).
31. Anguiano A, Wang BT, Wang SR et al. Spectral karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory. Mol. Cytogenet. 5, 3 (2012).
32. Stoger R. Epigenetics and obesity. Pharmacogenomics 9(12), 1851-1860 (2008).
33. Jasmine F, Rahaman R, Dodsworth C et al. A genome-wide study of cytogenetic changes in colorectal cancer using SNP microarrays: opportunities for future personalized treatment. PLoS ONE 7(2), e31968 (2012).